Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000292644 Individual ID 00399539 Associated disease CMT Phenotype details Distal upper limb muscle weakness (HP:0008959); distal upper limb muscle atrophy (HP:0007149); distal lower limb muscle weakness (HP:0009053); muscle atrophy, lower limb, distal (HP:0008944); distal sensory loss (HP:0002936); claw hands (HP:0001171); decreased reflexes (HP:0001265); steppage gait (HP:0003376) Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 12y Phenotype/Onset Hand muscle weakness (HP:0030237) Protein - Owner name Sarah El-Bestawi Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Sarah El-Bestawi Date created 2022-01-21 15:26:52 +01:00 (CET) Date last edited 2022-01-24 12:02:51 +01:00 (CET)

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